PCK1 (phosphoenolpyruvate carboxykinase 1)

Gene

• Entrez ID: 5105
• Gene name: Phosphoenolpyruvate carboxykinase 1
• Gene symbol: PCK1
• Synonyms (NCBI Gene): PCKDC, PEPCK-C, PEPCK1, PEPCKC
• Chromosome: 20
• Chromosome location: 20q13.31
• Summary: This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expressio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs147120329	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs148684857	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201186470	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs373906233	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT054920	hsa-miR-33b-5p	Luciferase reporter assay, qRT-PCR	23716591
MIRT607464	hsa-miR-8485	HITS-CLIP	22927820
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	22927820
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT626357	hsa-miR-8064	HITS-CLIP	22927820
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT607464	hsa-miR-8485	HITS-CLIP	23313552
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607464	hsa-miR-8485	HITS-CLIP	23313552
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT626357	hsa-miR-8064	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT620256	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT620255	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT620254	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT620253	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT620252	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT620251	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT620250	hsa-miR-3163	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT647684	hsa-miR-548aa	HITS-CLIP	23824327
MIRT647683	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT647682	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT626357	hsa-miR-8064	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT620256	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT620255	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT620254	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT620253	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT620252	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT620251	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT620250	hsa-miR-3163	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	23824327
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT607464	hsa-miR-8485	HITS-CLIP	24906430
MIRT607463	hsa-miR-4789-3p	HITS-CLIP	24906430
MIRT607462	hsa-miR-5011-5p	HITS-CLIP	24906430
MIRT607461	hsa-miR-190a-3p	HITS-CLIP	24906430
MIRT607460	hsa-miR-1277-5p	HITS-CLIP	24906430
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	27418678
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	27418678
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	27418678
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	27418678
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT576692	hsa-miR-8064	HITS-CLIP	27418678
MIRT576695	hsa-miR-8485	HITS-CLIP	27418678
MIRT576695	hsa-miR-8485	HITS-CLIP	27418678
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	28735896
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	28735896
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	28735896
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	28735896
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	28735896
MIRT576695	hsa-miR-8485	HITS-CLIP	22927820
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	22927820
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	22927820
MIRT576692	hsa-miR-8064	HITS-CLIP	22927820
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	22927820
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	22927820
MIRT576695	hsa-miR-8485	HITS-CLIP	23313552
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT576695	hsa-miR-8485	HITS-CLIP	23313552
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23313552
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576692	hsa-miR-8064	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT620256	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT620255	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT620254	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT620253	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT620252	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT620251	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT620250	hsa-miR-3163	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT647684	hsa-miR-548aa	HITS-CLIP	23824327
MIRT647683	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT647682	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT639566	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT639565	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT639564	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576692	hsa-miR-8064	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT620256	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT620255	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT620254	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT620253	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT620252	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT620251	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT620250	hsa-miR-3163	HITS-CLIP	23824327
MIRT620249	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT620248	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT620247	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620246	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT620245	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT576695	hsa-miR-8485	HITS-CLIP	23824327
MIRT576694	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT576693	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT576691	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT576690	hsa-miR-1277-5p	HITS-CLIP	23824327

Transcription factors

Transcription factor	Regulation	Reference
ATF2	Activation	12453892
CEBPA	Unknown	12237288
SP1	Activation	14744869
SREBF1	Repression	14744869

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	11851336
GO:0004611	Function	Phosphoenolpyruvate carboxykinase activity	IEA
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	EXP	11851336
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IBA
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IDA	30193097, 32322062
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IEA
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	IMP	26971250
GO:0004613	Function	Phosphoenolpyruvate carboxykinase (GTP) activity	ISS
GO:0005525	Function	GTP binding	IDA	11851336
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	32322062
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	32322062
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006006	Process	Glucose metabolic process	IMP	14764811
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IDA	30193097
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	IMP	26971250
GO:0006094	Process	Gluconeogenesis	ISS
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006107	Process	Oxaloacetate metabolic process	IBA
GO:0006107	Process	Oxaloacetate metabolic process	IDA	30193097
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IDA	14645851
GO:0006607	Process	NLS-bearing protein import into nucleus	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0017076	Function	Purine nucleotide binding	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	32322062
GO:0019543	Process	Propionate catabolic process	IBA
GO:0030145	Function	Manganese ion binding	IBA
GO:0030145	Function	Manganese ion binding	IDA	11851336
GO:0030145	Function	Manganese ion binding	IEA
GO:0031406	Function	Carboxylic acid binding	IDA	11851336
GO:0032868	Process	Response to insulin	IDA	14764811
GO:0032869	Process	Cellular response to insulin stimulus	IBA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	32322062
GO:0036316	Process	SREBP-SCAP complex retention in endoplasmic reticulum	IDA	12202038, 15899885, 32322062
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042594	Process	Response to starvation	IBA
GO:0043382	Process	Positive regulation of memory T cell differentiation	IEA
GO:0043382	Process	Positive regulation of memory T cell differentiation	ISS
GO:0043648	Process	Dicarboxylic acid metabolic process	IEA
GO:0045542	Process	Positive regulation of cholesterol biosynthetic process	IDA	12177166
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046166	Process	Glyceraldehyde-3-phosphate biosynthetic process	IEA
GO:0046327	Process	Glycerol biosynthetic process from pyruvate	IBA
GO:0046327	Process	Glycerol biosynthetic process from pyruvate	IEA
GO:0046327	Process	Glycerol biosynthetic process from pyruvate	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046889	Process	Positive regulation of lipid biosynthetic process	IDA	32322062
GO:0046890	Process	Regulation of lipid biosynthetic process	IDA	32322062
GO:0051365	Process	Cellular response to potassium ion starvation	IEA
GO:0051604	Process	Protein maturation	EXP	11163209
GO:0051604	Process	Protein maturation	IDA	11163209
GO:0051604	Process	Protein maturation	IMP	21719679
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070365	Process	Hepatocyte differentiation	IBA
GO:0071333	Process	Cellular response to glucose stimulus	IBA
GO:0071333	Process	Cellular response to glucose stimulus	IDA	30193097
GO:0071549	Process	Cellular response to dexamethasone stimulus	IBA
GO:0072350	Process	Tricarboxylic acid metabolic process	IDA	30193097
GO:0106264	Function	Protein serine kinase activity (using GTP as donor)	IDA	32322062
GO:0106264	Function	Protein serine kinase activity (using GTP as donor)	IEA

Other IDs

• MIM: 614168
• HGNC: 8724
• e!Ensembl: ENSG00000124253

Protein

• UniProt ID: P35558
• Protein name: Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (PEPCK-C) (EC 4.1.1.32) (Serine-protein kinase PCK1) (EC 2.7.11.-)
• Protein function: Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMe
• PDB: 1KHB, 1KHE, 1KHF, 1KHG, 1M51, 1NHX, 2GMV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17297	PEPCK_N	29 → 256	Phosphoenolpyruvate carboxykinase N-terminal domain	Domain
  PF00821	PEPCK_GTP	260 → 619	Phosphoenolpyruvate carboxykinase C-terminal P-loop domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Major sites of expression are liver, kidney and adipocytes. {ECO:0000269|PubMed:8490617}.
• Sequence:

  MPPQLQNGLNLSAKVVQGSLDSLPQAVREFLENNAELCQPDHIHICDGSEEENGRLLGQM
  EEEGILRRLKKYDNCWLALTDPRDVARIESKTVIVTQEQRDTVPIPKTGLSQLGRWMSEE
  DFEKAFNARFPGCMKGRTMYVIPFSMGPLGSPLSKIGIELTDSPYVVASMRIMTRMGTPV
  LEAVGDGEFVKCLHSVGCPLPLQKPLVNNWPCNPELTLIAHLPDRREIISFGSGYGGNSL
  LGKKCFALRMASRLAKEEGWLAEHMLILGITNPEGEKKYLAAAFPSACGKTNLAMMNPSL
  PGWKVECVGDDIAWMKFDAQGHLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTNV
  AETSDGGVYWEGIDEPLASGVTITSWKNKEWSSEDGEPCAHPNSRFCTPASQCPIIDAAW
  ESPEGVPIEGIIFGGRRPAGVPLVYEALSWQHGVFVGAAMRSEATAAAEHKGKIIMHDPF
  AMRPFFGYNFGKYLAHWLSMAQHPAAKLPKIFHVNWFRKDKEGKFLWPGFGENSRVLEWM
  FNRIDGKASTKLTPIGYIPKEDALNLKGLGHINMMELFSISKEFWEKEVEDIEKYLEDQV
  NADLPCEIEREILALKQRISQM

• Sequence length: 622

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Pathogenic; Likely pathogenic	rs2070161874, rs776767788	RCV003228696 RCV001198900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PCK1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	18830724, 21152065	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	21152065		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	24863970	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	37904164	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	31342296		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	21152065		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37924129	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32028860, 39684297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39684297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31406102, 33865459, 34238253	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37166978	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27748938, 34528699	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37904164	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	CTD_human_DG	30097691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	BEFREE	21152065		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33686088	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35109912	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31841108		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36193307, 37475862	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	31342296		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30188751		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15046742, 17709878, 20124556, 8490617, 8985654		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30805369	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15046742, 17709878, 20124556, 8490617, 8985654		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26280835, 37904164	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19725958, 22932905, 30805369	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14739078, 14764811, 15046742, 16132948, 16620271, 17709878, 19070910, 19587243, 19725958, 28127057, 30445425, 30805369, 8490617, 8985654, 9285775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	14764811, 15046742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	28107998, 31270208		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	25399406		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19587243		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	24863970, 37924129	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	27785616, 28216384		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	39273699	Associate	★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	31848273		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	20574532	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	17709878		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	19363144, 28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27609066, 29335519, 29608893, 29768256, 30619751, 30639375, 30717766, 31406102		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	30619751, 30639375, 30717766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29335519		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30619751		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	8490617		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36700470	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23092637		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21152065		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21152065	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	27785616		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20691246, 29768256, 30619751, 30717766		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31805072		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17709878, 20134411, 26280835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20134411, 26280835	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	20882379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39463224	Inhibit	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	20134411		★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	UNIPROT_DG	24863970, 26971250, 28216384		★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	BEFREE	28216384		★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	GENOMICS_ENGLAND_DG	28216384		★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Phosphoenolpyruvate carboxykinase deficiency	Phosphoenolpyruvate carboxykinase deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal steatosis	Renal steatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18460190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18460190		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	28457799, 31270208		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39529035	Associate	★☆☆☆☆ Found in Text Mining only